Hereditary spastic paraplegia - childhood onset

Gene: VAMP1

Amber List (moderate evidence)

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Adult and childhood onset. Single founder mutation in multiple families. Homozygous null alleles cause alternative phenotype.
Created: 10 May 2019, 10:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198

Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017

Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017

Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
emma baple (Genomics England Curator), 10 May 2016
Created: 2 May 2019, 4:59 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. multiple affected members of 4 large multigenerational families. In sheffield HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Phenotypes
Spastic ataxia 1, autosomal dominant, 108600

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
OMIM
185880
Clinvar variants
Variants in VAMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to VAMP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VAMP1 were set to 22958904

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to VAMP1.

2 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vamp1 has been classified as Red List (Low Evidence).

28 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vamp1 has been classified as Green List (High Evidence).

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VAMP1.

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to VAMP1.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP1 were set to 22958904 Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600